AutismKB 2.0

Evidence Details for PKNOX2


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Basic Information Top
Gene Symbol:PKNOX2 ( FLJ13074,PREP2 )
Gene Full Name: PBX/knotted 1 homeobox 2
Band: 11q24.2
Quick LinksEntrez ID:63876; OMIM: 613066; Uniprot ID:PKNX2_HUMAN; ENSEMBL ID: ENSG00000165495; HGNC ID: 16714
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PKNOX2|63876|nucleotide
ATGATGCAACATGCCTCCCCAGCCCCCGCTCTGACGATGATGGCCACGCAGAATGTCCCGCCCCCACCCTACCAGGACAGCCCACAGATGACGGCAACCGCCCAG
CCACCCTCCAAGGCCCAGGCTGTCCACATCTCTGCCCCCTCAGCTGCTGCCAGCACACCTGTGCCCAGTGCCCCCATCGACCCCCAGGCCCAGCTGGAGGCTGAC
AAGCGAGCTGTATACAGGCACCCTCTTTTCCCGCTCCTGACGCTGCTGTTTGAGAAATGTGAACAGGCCACCCAGGGCTCTGAGTGCATCACCTCCGCCAGCTTT
GATGTGGACATCGAGAACTTTGTCCACCAGCAGGAACAGGAGCACAAACCCTTCTTCAGCGATGACCCAGAACTGGACAATCTGATGGTGAAGGCAATCCAGGTC
CTGAGAATCCACCTGCTGGAGCTGGAGAAAGTCAATGAACTCTGCAAGGACTTTTGTAACCGTTACATCACCTGCCTCAAAACCAAGATGCACAGCGACAACCTG
CTCAGGAATGATCTAGGGGGGCCCTACTCCCCCAACCAGCCCTCCATCAACCTTCACTCACAGGACCTCCTGCAGAATTCCCCCAATTCCATGTCCGGAGTCTCC
AATAACCCCCAGGGGATTGTGGTCCCAGCCTCAGCGCTCCAGCAGGGCAACATCGCCATGACAACCGTCAACTCACAAGTTGTGTCAGGTGGAGCCTTATACCAA
CCGGTTACCATGGTAACCTCCCAGGGTCAGGTGGTCACCCAAGCAATCCCCCAGGGAGCCATCCAGATCCAGAACACACAGGTTAACCTTGACCTCACCTCCCTC
CTGGACAATGAGGATAAGAAGTCCAAGAACAAACGAGGAGTCTTGCCCAAGCATGCCACCAATATAATGCGTTCTTGGCTCTTCCAGCATCTCATGCACCCCTAC
CCCACGGAGGATGAGAAGAGGCAGATCGCAGCCCAGACCAACCTCACCCTCCTGCAAGTAAACAACTGGTTCATCAATGCCCGGAGGCGCATCCTGCAGCCCATG
CTTGATGCCAGCAACCCAGATCCTGCCCCCAAAGCCAAGAAGATCAAGTCTCAGCACCGGCCCACCCAAAGATTCTGGCCCAACTCCATCGCTGCGGGGGTGCTG
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>PKNOX2|63876|protein
MMQHASPAPALTMMATQNVPPPPYQDSPQMTATAQPPSKAQAVHISAPSAAASTPVPSAPIDPQAQLEADKRAVYRHPLFPLLTLLFEKCEQATQGSECITSASF
DVDIENFVHQQEQEHKPFFSDDPELDNLMVKAIQVLRIHLLELEKVNELCKDFCNRYITCLKTKMHSDNLLRNDLGGPYSPNQPSINLHSQDLLQNSPNSMSGVS
NNPQGIVVPASALQQGNIAMTTVNSQVVSGGALYQPVTMVTSQGQVVTQAIPQGAIQIQNTQVNLDLTSLLDNEDKKSKNKRGVLPKHATNIMRSWLFQHLMHPY
PTEDEKRQIAAQTNLTLLQVNNWFINARRRILQPMLDASNPDPAPKAKKIKSQHRPTQRFWPNSIAAGVLQQQGGAPGTNPDGSINLDNLQSLSSDSATMAMQQA
MMAAHDDSLDGTEEEDEDEMEEEEEEELEEEVDELQTTNVSDLGLEHSDSLE
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018